birt-hogg-dube syndromeflcn genepapuleBackground Birt-Hogg-Dub茅 syndrome (BHD) is a dominantly inherited predisposition for development of fibrofolliculomas, trichodiscomas, and acrochordons. Concurrent internal tumors, such as colonic polyps and renal carcinoma, have been described in patients with...
呼吸罕见病医生培训-Birt-Hogg-Dube综合征 91849 观看发布时间 2022-08-17 课程介绍 讲者介绍 时间:2022年8月17日 19:00-21:00
Birt‐Hogg‐Dube (BHD) syndrome is a rare autosomal genodermatosis characterized by the triad of fibrofolliculomas, trichodyscomas and acrochordons. The gene for BHD was localised to chromosome 17p11.2 and a germline insertion/deletion was identified to cause premature truncation of the BHD ...
Birt-Hogg-Dubé综合征合并肾嗜酸/嫌色细胞混合性肿瘤一例[J]. 协和医学杂志, 2019,10(02):162-165. 返回引文位置Google Scholar 百度学术 万方数据 [16] Aivaz O , Berkman S , Middelton L ,et al. Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. JAMA Dermatol. 2015;151(7)...
Birt-Hogg-Dubé综合征是一种常染色体显性遗传的、多系统疾病,由卵泡蛋白基因FLCN(17p11.2)突变引起。这种遗传性疾病的特征是皮肤病变、肾脏肿瘤、囊性肺疾病和自发性气胸[1]。皮肤病变包括纤维毛囊瘤、毛盘瘤和软垂疣[2]。建议这些患者每3年对肾脏进行一次MRI检查,以排除发...
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disorder clinically manifested by fibrofolliculomas, renal cell carcinoma, lung cysts, and spontaneous pneumothorax. In 1977, Birt, Hogg, and Dubé reported small papular skin lesions distributed over the scalp, forehead, face, and neck in...
Birt-Hogg-Dubé综合征(BHD) BHD是一种常染色体显性疾病,以肺囊肿、复发性自发性气胸、毛囊肿瘤(皮肤纤维滤泡瘤)和肾肿瘤为特征。它是由滤泡蛋白(FLCN)基因突变引起的,FLCN基因是一种肿瘤抑制基因。肺囊肿形成的确切机制尚不清楚,但可能与mTOR通路的改变、细胞间黏附的改变导致机械力的易损、LKB1-AMPK信号通路受损...
Birt-Hogg-Dube Syndrome. Bezmialem Science 2018; 6(3): 220-2. Birt-Hogg-Dube Sendromu/Birt-Hogg-Dube Syndrome Birt-Hogg-Dube syndrome was suspected given this patient's basilar predominant multiple lung cysts and bilateral renal masses, but without skin findings the diagnosis was in question....
Birt-Hogg-Dubé (BHD)综合征是一种罕见的常染色体显性多器官系统性疾病,其特征是存在纤维滤泡瘤、肺囊肿伴或不伴自发性气胸和肾肿瘤。胸部CT偶然发现肺囊肿和自发性气胸时发现,BHD综合征的早期表现可能只有多发性肺囊肿 BHD综合征(Birt-Hogg-Dube syndrome, BHD S;MIM::135150),在家系中以常 染色体显性遗传形式...
Fahmy W, Safwat AS, Bissada NK, Curry N, Guirguis N, Clarke HS, Fraig M, Finkbeiner A. Multiple/bilateral renal tumors in patients with Birt-Hogg-Dube´ syndrome. Int Urol Nephrol 2007;39: 995-999.Fahmy W, Safwat AS, Bissada NK, et al. Multiple/bilateral renal tumors in ...